T-cell malignancies in Brazil have a high seroprevalence rate of HTLV-I antibodies. We have analyzed the disease features in 188 Brazilian patients with a T-cell disorder. These included 40 with T-lymphoblastic leukaemia or lymphoma (T-ALL/T-LbLy) and 148 with mature T-cell diseases: 5 T-prolymphocytic leukaemia, 53 adult T-cell leukaemia/lymphoma (ATLL), 54 cutaneous T-cell lymphomas, 29 pleomorphic T-cell lymphomas and 7 large granular lymphocyte leukaemia. The diagnosis was based on clinical, morphological and immunological features and HTLV-I serology. ATLL in Brazil has the same diseases features as in other endemic regions, the only apparent differences being: age, Brazilian patients being younger than Japanese, and ethnic grouping, one third of Brazilians being white Caucasians of European descent. We applied a scoring system based on the presence or absence of typical features associated with ATLL; hypercalcaemia, cell morphology, immunophenotype, histopathology and HTLV-I status, to see whether it may help in diagnosing cases of ATLL. All had high scores, whereas all other T-cell diseases scored low. Only 5 ATLL cases were HTLV-I-negative by serology, but they had otherwise typical features of ATLL, and their cells did not have HTLV-I proviral sequences by DNA analysis. Such cases suggest that ATLL may develop in a minority of individuals living in regions where it is endemic, without evidence of HTLV-I infection, and that other factors may contribute to the pathogenesis of the disease.

Objetivo. Descrever os principais resultados do programa de triagem neonatal para a doença falciforme do Estado do Rio de Janeiro em 15 meses de funcionamento (agosto de 2000 a novembro de 2001 Conclusões. Nossos dados evidenciam a importância do diagnóstico precoce da doença falciforme, de forma a prevenir e evitar as freqüentes complicações infecciosas enfrentadas por esses pacientes.Globinas, genética, anemia hemolítica congênita. RESUMOAs hemoglobinopatias compreendem um grupo de distúrbios hereditá-rios que afetam os genes responsáveis pela síntese globinas. Esses distúrbios são expressos como uma alteração qualitativa ou quantitativa da síntese das globinas, com menor sobrevida das hemácias e conseqüente anemia crônica. A incidência das hemoglobinopatias é de aproximadamente 4,5% na população mundial. Devido à alta incidência, essas desordens passaram a representar um grave problema de saúde pública em muitos países (1).Dentre as hemoglobinopatias, a doença falciforme (homozigose SS, dupla heterozigose SC, S beta talassemia e SD) é a patologia hereditária monogênica mais freqüente e a mais impactante, por sua alta prevalência e pela gravidade de suas manifestações clí-nicas. A doença atinge aproximadamente 2% da população da África equatorial. Antes da instalação de programas de triagem neonatal, apenas 2% das crianças doentes atingiam 5 anos de idade, sendo a infecção bacteriana a maior causa de complicações nesses pacientes, seguida por febre, seqüestro esplênico e síndrome mão-pé. Esses programas apontam para prevalência média de 2% da população triada (2). A doença é causada por uma mutação no gene da globina beta, que Palavras-chave

The contribution of human T-cell lymphotropic virus (HTLV-I) DNA by PCR in CSF and the intrathecal synthesis of antibodies to HTLV-I by the antibody index (AI) to the diagnosis of HTLV-1-associated myelopathy (HAM)/tropical spastic paraparesis (TSP) were evaluated. Cases of spastic paraparesis compatible with HAM/TSP had increased AI for HTLV-I (60/73) and HTLV-I proviral sequences in CSF (25/27). Among 27 patients with other neurologic diseases, three had increased AI and another three had positive HTLV-I DNA in CSF. Thus, the combination of PCR for proviral DNA and AI for HTLV-I in CSF provides consistent criteria for the diagnosis of HAM/TSP.

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The high proviral load in peripheral blood mononuclear cells or in CSF or both may be a good marker of human T lymphotropic virus type I (HTLV-I)-associated myelopathy/tropical spastic paraparesis (HAM/TSP) and can differentiate patients with HAM/TSP from patients with multiple sclerosis infected with HTLV-I.

Background Although risk factors for HIV infection are known, it is important for blood centers to understand local epidemiology and disease transmission patterns. Current risk factors for HIV infection in blood donors in Brazil were assessed. Methods A case-control study was conducted at large public blood centers located in four major cities between April 2009 – March 2011. Cases were persons whose donations were confirmed positive by enzyme immunoassays followed by Western Blot confirmation. Audio computer-assisted structured-interviews (ACASI) were completed by all cases and controls. Multivariable logistic regression was used to estimate adjusted odds ratios (AORs) and associated 95% confidence intervals (CIs). Results There were 341 cases, including 47 with recently-acquired infection, and 791 controls. Disclosed risk factors for both females and males were sex with an HIV-positive person (adjusted odds ratio (AOR) 11.3, 95% CI [4.1, 31.7]) and being an IVDU or sexual partner of an IVDU (AOR 4.65 [1.8, 11.7]). For female blood donors, additional risk factors were having male sex partners who also are MSM (AOR 13.5 [3.1, 59.8]), and having unprotected sex with multiple sexual partners (AOR 5.19 [2.1, 12.9]). The primary risk factor for male blood donors was MSM activity (AOR 21.6 [8.8, 52.9.]). Behaviors associated with recently-acquired HIV were being a MSM or sex partner of MSM (13.82, [4.7, 40.3]), and IVDU (11.47, [3.0, 43.2]). Conclusion Risk factors in blood donors parallel those in the general population in Brazil. Identified risk factors suggest that donor compliance with selection procedures at the participating blood centers is inadequate.

Data collected during the 10 years of the program showed reduction in mortality of patients with SCD in comparison to available historical statistical data before the implementation of the national screening program. This 10-year study showed that early diagnosis and treatment of newborns was associated with improved survival and quality of life of Brazilian children with SCD.

Background There are few surveillance studies analyzing genotypes or primary (transmitted) drug resistance in HIV-infected blood donors in Brazil. The aim of this study was to characterize patterns of HIV genotypes and primary resistance among HIV seropositive donors identified at 4 geographically dispersed blood centers in Brazil. Methods All HIV-infected donors who returned for counseling at the 4 REDS-II Hemocenters in Brazil from January 2007–March 2011 were invited to participate in a case-control study involving a questionnaire on risk factors. Viral sequencing was also offered to positive cases to assign genotypes and to detect and characterize primary resistance to RT and protease inhibitors according to WHO guidelines. Results Of the 341 HIV seropositive donors who consented to participate in the risk-factor and genetics study, pol sequences were obtained for 331 (97%). Clade B was predominant (76%) followed by F (15%) and C (5%). Primary resistance was present in 36 (12.2%; 95% confidence interval [CI] 8.2,15.5) of the 303 individuals not exposed to antiretroviral therapy (ART), varying from 8.2% (95%CI 2,7,13.6) in Recife to 19.4% in São Paulo (95%CI 9.5,29.2); there were no significant correlations with other demographics or risk factors. Conclusion Although subtype B remains the most prevalent genotype in all 4 areas, increasing rates of subtype C in Sao Paulo and F in Recife were documented relative to earlier reports. Transmitted drug resistance was relatively frequent, particularly in the city of Sao Paulo which showed an increase compared to previous HIV seropositive donor data from 10 years ago.